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AVPR2 is a receptor protein that helps maintain water homeostasis in humans. The binding of AVPR2 to antidiuretic hormone in the kidney promotes water retention, helping to prevent dehydration and electrolyte imbalance.
The AVPR2 protein is encoded by the AVPR2 gene. The structure of the AVPR2 gene is shown below. In the diagram, rectangles represent exons and horizontal lines represent introns.
Which of the following AVPR2 gene mutations would most likely affect a person’s ability to properly maintain water homeostasis?
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